Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy

Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and s...

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Autors principals:	Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2024-01-01
Col·lecció:	Current Issues in Molecular Biology
Matèries:	early-onset myopathy ion channelopathy P2X receptors whole exome sequencing <i>P2RX6</i> gene skeletal muscle
Accés en línia:	https://www.mdpi.com/1467-3045/46/2/73
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